Linked Data
ClinVar Variation Id:
938443
dbSNP Id:
rs766500060
ExAC:
15:68502093 T / C
gnomAD v2:
15-68502093-T-C
gnomAD v4:
15-68209755-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209755T>C , CM000677.2:g.68209755T>C | GRCh38 |
| NC_000015.9:g.68502093T>C , CM000677.1:g.68502093T>C | GRCh37 |
| NC_000015.8:g.66289147T>C | NCBI36 |
| NG_008764.2:g.52457A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.547A>G MANE Select | ENSP00000249806.5:p.Ile183Val | |
| ENST00000562767.2:c.84-12127A>G | ENSP00000456336.1:n.84-12127A>G | |
| ENST00000563917.2:n.389A>G | ||
| ENST00000565471.6:c.88A>G | ENSP00000457384.1:p.Ile30Val | |
| ENST00000635747.1:c.*450A>G | ENSP00000490627.1:n.*450A>G | |
| ENST00000636212.1:c.*217A>G | ENSP00000489851.1:n.*217A>G | |
| ENST00000636314.1:c.243A>G | ENSP00000490295.1:p.Thr81= | |
| ENST00000636674.1:n.1649A>G | ||
| ENST00000636964.1:n.2075A>G | ||
| ENST00000637054.1:c.198+8781A>G | ENSP00000490807.1:n.198+8781A>G | |
| ENST00000637223.1:c.*261A>G | ENSP00000490010.1:n.*261A>G | |
| ENST00000637329.1:c.516A>G | ||
| ENST00000637450.1:c.*201A>G | ENSP00000490204.1:n.*201A>G | |
| ENST00000637494.1:c.259A>G | ENSP00000490057.1:p.Ile87Val | |
| ENST00000637667.1:c.448A>G | ENSP00000489843.1:p.Ile150Val | |
| ENST00000637823.1:c.372A>G | ||
| ENST00000637888.1:c.198+8781A>G | ENSP00000490546.1:n.198+8781A>G | |
| ENST00000638076.1:c.*150A>G | ENSP00000490373.1:n.*150A>G | |
| ENST00000638144.1:n.190A>G | ||
| ENST00000646164.1:c.38+8781A>G | ||
| ENST00000249806.9:c.547A>G | ENSP00000249806.5:p.Ile183Val | |
| ENST00000538696.5:c.643A>G | ENSP00000445770.1:p.Ile215Val | |
| ENST00000562767.1:c.84-12127A>G | ENSP00000456336.1:n.84-12127A>G | |
| ENST00000563917.1:n.447A>G | ||
| ENST00000564752.1:c.573A>G | ENSP00000457822.1:p.Thr191= | |
| ENST00000565471.5:c.88A>G | ENSP00000457384.1:p.Ile30Val | |
| ENST00000566347.5:c.358A>G | ENSP00000457783.1:p.Ile120Val | |
| ENST00000567060.5:c.298-35A>G | ENSP00000454818.1:n.298-35A>G | |
| NM_017882.2:c.547A>G | NP_060352.1:p.Ile183Val | |
| XR_931861.1:n.769A>G | ||
| NM_017882.3:c.547A>G MANE Select | NP_060352.1:p.Ile183Val |